Diagnostic challenges in von Willebrand disease. Report of two cases with emphasis on multimeric and molecular analysis.
Platelets
; 32(5): 697-700, 2021 Jul 04.
Article
en En
| MEDLINE
| ID: mdl-32664776
ABSTRACT
Identification of qualitative variants of von Willebrand disease (VWD) can be a diagnostic challenge because of discrepant results obtained in the multiple laboratory tests available for its appropriate classification. We report two cases of infrequent inherited variants of VWD with unclear preliminary results with the test panel available at the time of first consultation and that were finally diagnosed as a VWD type 2A/IID with a c.8318 G > C, p.Cys2773Ser mutation and a VWD type 2M with c.4225 T > G, p.Val1409Phe mutation, respectively. The description of these two cases highlights that despite the limited diagnostic panel for the evaluation of von Willebrand Factor (VWF) functionality, the multimeric analysis and genetic family studies were fundamental tools to achieve the final diagnosis.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Enfermedades de von Willebrand
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
/
Qualitative_research
Límite:
Adult
/
Female
/
Humans
/
Middle aged
Idioma:
En
Revista:
Platelets
Asunto de la revista:
HEMATOLOGIA
Año:
2021
Tipo del documento:
Article
País de afiliación:
España